Works matching IS 09646906 AND DT 1997 AND VI 6 AND IP 2

Results: 21

Identification of Structural Mutations in the Fifth Domain of Apolipoprotein H (β2-Glycoprotein I) Which Affect Phospholipid Binding.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 311, doi. 10.1093/hmg/6.2.311

By:

Sanghera, Dharambir K.;
Wagenknecht, Dawn R.;
McIntyre, John A.;
Kamboh, M. Ilyas

Publication type:

Article

A Multicopy Transcription-Repair Gene, BTF2p44, Maps to the SMA Region and Demonstrates SMA Associated Deletions.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 229, doi. 10.1093/hmg/6.2.229

By:

Carter, Todd A.;
Bönnemann, Carsten G.;
Wang, Ching H.;
Obici, Silvana;
Parano, Enrico;
De Fatima Bonaldo, Maria;
Ross, Barbara M.;
Penchaszadeh, Graciela K.;
Mackenzie, Alex;
Soares, Marcelo Bento;
Kunkel, Louis M.;
Gilliam, T. Conrad

Publication type:

Article

Structural and Mutational Analysis of a Conserved Gene (DGSI) from the Minimal DiGeorge Syndrome Critical Region.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 267, doi. 10.1093/hmg/6.2.267

By:

Gong, Weilong;
Emanuel, Beverly S.;
Galili, Naomi;
Kim, David H.;
Roe, Bruce;
Driscoll, Deborah A.;
Budarf, Marcia L.

Publication type:

Article

Generalized CNS Disease and Massive GM1-Ganglioside Accumulation in Mice Defective in Lysosomal Acid β-galactosidase.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 205, doi. 10.1093/hmg/6.2.205

By:

Hahn, Christopher N.;
del Pilar Martin, Maria;
Schröder, Maria;
Vanier, Marie T.;
Suzuki, Kinuko;
Hara, Yoji;
Suzuki, Kunihiko;
d'Azzo, Alessandra

Publication type:

Article

Homozygosity Mapping of Alström Syndrome to Chromosome 2p.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 213, doi. 10.1093/hmg/6.2.213

By:

Collin, Gayle B.;
Marshall, Jan D.;
Cardon, Lon R.;
Nishina, Patsy M.

Publication type:

Article

A Transcript Map of the Newly Defined 165 kb Wolf-Hirschhorn Syndrome Critical Region.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 317, doi. 10.1093/hmg/6.2.317

By:

Wright, Tracy J.;
Ricke, Darrell O.;
Denison, Karen;
Abmayr, Simone;
Cotter, Philip D.;
Hirschhorn, Kurt;
Keinänen, Mauri;
McDonald-McGinn, Donna;
Somer, Mirja;
Spinner, Nancy;
Yang-Feng, Theresa;
Zackai, Elaine;
Altherr, Michael R.

Publication type:

Article

Down-Regulation of Mitochondrial Transcription Factor a During Spermatogenesis in Humans.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 185, doi. 10.1093/hmg/6.2.185

By:

Larsson, Nils-Göran;
Oldfors, Anders;
David Garman, J.;
Barsh, Gregory S.;
Clayton, David A.

Publication type:

Article

Cloning, Chromosomal Mapping and Expression Pattern of the Mouse Brca2 Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 291, doi. 10.1093/hmg/6.2.291

By:

Connor, Frances;
Smith, Amanda;
Wooster, Richard;
Stratton, Michael;
Dixon, Alistair;
Campbell, Elizabeth;
Tait, Tere-Michelle;
Freeman, Tom;
Ashworth, Alan

Publication type:

Article

UFD1L, a Developmentally Expressed Ubiquitination Gene, is Deleted in CATCH 22 Syndrome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 259, doi. 10.1093/hmg/6.2.259

By:

Pizzuti, Antonio;
Novelli, Giuseppe;
Ratti, Antonia;
Amati, Francesca;
Mari, Aldo;
Calabrese, Giuseppe;
Nicolis, Silvia;
Silani, Vincenzo;
Marino, Bruno;
Scarlato, Guglielmo;
Ottolenghi, Sergio;
Dallapiccola, Bruno

Publication type:

Article

Common BRCA1 Variants and Susceptibility to Breast and Ovarian Cancer in the General Population.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 285, doi. 10.1093/hmg/6.2.285

By:

Dunning, Alison M.;
Chiano, Mathias;
Smith, Neil R.;
Dearden, Joanna;
Gore, Martin;
Oakes, Suzy;
Wilson, Charles;
Stratton, Michael;
Peto, Julian;
Easton, Doug;
Clayton, David;
Ponder, Bruce A. J.

Publication type:

Article

The Role of Size, Sequence and Haplotype in the Stability of FRAXA and FRAXE Alleles during Transmission.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 173, doi. 10.1093/hmg/6.2.173

By:

Murray, Anna;
Macpherson, James N.;
Pound, Michelle C.;
Sharrock, Andrea;
Youings, Sheila A.;
Dennis, Nick R.;
McKechnie, Nicky;
Linehan, Paul;
Morton, Newton E.;
Jacobs, Patricia A.

Publication type:

Article

An Imprinted Mouse Transcript Homologous to the Human Imprinted in Prader-Willi Syndrome (IPW) Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 325, doi. 10.1093/hmg/6.2.325

By:

Wevrick, Rachel;
Francke, Uta

Publication type:

Article

A Single Cell Complementation Class is Common to Several Cases of Cytochrome c Oxidase-Defective Leigh's Syndrome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 221, doi. 10.1093/hmg/6.2.221

By:

Munaro, Monica;
Tiranti, Valeria;
Sandonà, Doriana;
Lamantea, Eleonora;
Uziel, Graziella;
Bisson, Roberto;
Zeviani, Massimo

Publication type:

Article

P53 Activates Fanconi Anemia Group C Gene Expression.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 277, doi. 10.1093/hmg/6.2.277

By:

Liebetrau, Wolfgang;
Budde, Andreja;
Savoia, Anna;
Grummt, Friedrich;
Hoehn, Holger

Publication type:

Article

Chromosome 3p14 Homozygous Deletions and Sequence Analysis of FRA3B.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 193, doi. 10.1093/hmg/6.2.193

By:

Boldog, Ferenc;
Gemmill, Robert M.;
West, James;
Robinson, Misi;
Robinson, Linda;
Li, Efang;
Roche, Joelle;
Todd, Sean;
Waggoner, Barbara;
Lundstrom, Ron;
Jacobson, Jan;
Mullokandov, Michael R.;
Klinger, Harold;
Drabkin, Harry A.

Publication type:

Article

Cloning and Developmental Expression Analysis of Chick Hira (Chira), a Candidate Gene for DiGeorge Syndrome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 237, doi. 10.1093/hmg/6.2.237

By:

Roberts, Catherine;
Daw, Sara C. M.;
Halford, Stephanie;
Scambler, Peter J.

Publication type:

Article

Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 157, doi. 10.1093/hmg/6.2.157

By:

Lo Nigro, Cristiana;
Chong, Samuel S.;
Smith, Ann C. M.;
Dobyns, William B.;
Carrozzo, Romeo;
Ledbetter, David H.

Publication type:

Article

Pex Gene Deletions in Gy and Hyp Mice Provide Mouse Models for X-Linked Hypophosphatemia.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 165, doi. 10.1093/hmg/6.2.165

By:

Strom, Tim M.;
Francis, Fiona;
Lorenz, Bettina;
Böddrich, Annett;
Lehrach, Hans;
Econs, Michael J.;
Meitinger, Thomas

Publication type:

Article

A Revision of the Lissencephaly and Miller-Dieker Syndrome Critical Regions in Chromosome 17p13.3.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 147, doi. 10.1093/hmg/6.2.147

By:

Chong, Samuel S.;
Pack, Svetlana D.;
Roschke, Anna V.;
Tanigami, Akira;
Carrozzo, Romeo;
Smith, Ann C. M.;
Dobyns, William B.;
Ledbetter, David H.

Publication type:

Article

Contribution of DNA Sequence and CAG Size to Mutation Frequencies of Intermediate Alleles for Huntington Disease: Evidence from Single Sperm Analyses.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 301, doi. 10.1093/hmg/6.2.301

By:

Chong, S. S.;
Almqvist, E.;
Telenius, H.;
LaTray, L.;
Nichol, K.;
Bourdelat-Parks, B.;
Goldberg, Y. P.;
Haddad, B. R.;
Richards, F.;
Sillence, D.;
Greenberg, C. R.;
Ives, E.;
Van den Engh, G.;
Hughes, M. R.;
Hayden, M. R.

Publication type:

Article

The Murine Homologue of HIRA, a DiGeorge Syndrome Candidate Gene, Is Expressed in Embryonic Structures Affected in Human CATCH22 Patients.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 247, doi. 10.1093/hmg/6.2.247

By:

Wilming, Laurens G.;
Snoeren, C. A. Sylvia;
van Rijswijk, Angelique;
Grosveld, Frank;
Meijers, Carel

Publication type:

Article